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Mutation databases

Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders

Juan Jiménez-Jáimez, Julián Palomino Doza, [ ... ], Luis Tercedor

Rapid and Simultaneous Detection of Major Drug Resistance Mutations in Reverse Transcriptase Gene for HIV-1 CRF01_AE, CRF07_BC and Subtype B in China Using Sequenom MassARRAY® System

Ka-Wai Cheung, Qiaoli Peng, [ ... ], Hui Wang

Molecular Heterogeneity of Ewing Sarcoma as Detected by Ion Torrent Sequencing

Nana Zhang, Haijing Liu, [ ... ], Hua Wang

DiMeX: A Text Mining System for Mutation-Disease Association Extraction

A. S. M. Ashique Mahmood, Tsung-Jung Wu, Raja Mazumder, K. Vijay-Shanker

CPAD, Curated Protein Aggregation Database: A Repository of Manually Curated Experimental Data on Protein and Peptide Aggregation

A. Mary Thangakani, R. Nagarajan, [ ... ], M. Michael Gromiha

Prospective Evaluation of First-Line Erlotinib in Advanced Non-Small Cell Lung Cancer (NSCLC) Carrying an Activating EGFR Mutation: A Multicenter Academic Phase II Study in Caucasian Patients (FIELT)

Jacques De Grève, Jan Van Meerbeeck, [ ... ], Erik Teugels

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

Dennis Lal, Eva M. Reinthaler, [ ... ], Bernd A. Neubauer

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins

János Molnár, Gergely Szakács, Gábor E. Tusnády

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

Zheng Wang, Aritoshi Iida, [ ... ], Shiro Ikegawa

Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders

Gábor Kovács, Tibor Kalmár, [ ... ], Zoltán Maróti

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

Irene Flønes, Paweł Sztromwasser, [ ... ], Charalampos Tzoulis

ZMYND10 - Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia

Małgorzata Kurkowiak, Ewa Ziętkiewicz, [ ... ], Michał Witt

Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy

Cheng-Tsung Hsiao, Pei-Chien Tsai, [ ... ], Yi-Chung Lee

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